Canonical Allele Identifier: CA425670180

Gene: EIF2AK2 ARL14EPP1

Linked Data

• gnomAD v4: 2-37148952-G-C
• MyVariant Identifiers: chr2:g.37376095G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37148952G>C , CM000664.2:g.37148952G>C	GRCh38
NC_000002.11:g.37376095G>C , CM000664.1:g.37376095G>C	GRCh37
NC_000002.10:g.37229599G>C	NCBI36
NG_030351.1:g.13096C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233057.9:c.-112C>G (EIF2AK2) MANE Select	ENSP00000233057.4:n.-112C>G
ENST00000411537.7:n.100C>G (EIF2AK2)
ENST00000647926.1:c.-112C>G (EIF2AK2)	ENSP00000497534.1:n.-112C>G
ENST00000679507.1:c.-16-1130C>G (EIF2AK2)	ENSP00000506024.1:n.-16-1130C>G
ENST00000679979.1:c.-112C>G (EIF2AK2)	ENSP00000506455.1:n.-112C>G
ENST00000680273.1:c.-112C>G (EIF2AK2)	ENSP00000506203.1:n.-112C>G
ENST00000681329.1:n.228C>G (EIF2AK2)
ENST00000681463.1:c.-75-37C>G (EIF2AK2)	ENSP00000505138.1:n.-75-37C>G
ENST00000681507.1:c.-99-13C>G (EIF2AK2)	ENSP00000505772.1:n.-99-13C>G
ENST00000681516.1:c.-112C>G (EIF2AK2)	ENSP00000506573.1:n.-112C>G
ENST00000233057.8:c.-112C>G (EIF2AK2)	ENSP00000233057.4:n.-112C>G
ENST00000390013.3:c.-99-13C>G (EIF2AK2)	ENSP00000374663.3:n.-99-13C>G
ENST00000395127.6:c.-112C>G (EIF2AK2)	ENSP00000378559.2:n.-112C>G
ENST00000411537.6:c.-75-37C>G (EIF2AK2)	ENSP00000393921.2:n.-75-37C>G
ENST00000412776.1:n.423G>C (ARL14EPP1)
NM_001135651.2:c.-112C>G (EIF2AK2)	NP_001129123.1:n.-112C>G
NM_002759.3:c.-112C>G (EIF2AK2)	NP_002750.1:n.-112C>G
XM_011532987.1:c.-99-13C>G (EIF2AK2)	XP_011531289.1:n.-99-13C>G
XM_011532987.2:c.-99-13C>G (EIF2AK2)	XP_011531289.1:n.-99-13C>G
XM_017004503.1:c.-112C>G (EIF2AK2)	XP_016859992.1:n.-112C>G
NM_001135651.3:c.-112C>G (EIF2AK2) MANE Select	NP_001129123.1:n.-112C>G
NM_002759.4:c.-112C>G (EIF2AK2)	NP_002750.1:n.-112C>G